A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6503546



Internal ID20876801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20541727..20721803hg38UCSC Ensembl
chr16:20553049..20733125hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38180077
hg19180077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2726n223
Supporting Variantsnssv18193590
Samples
Known GenesACSM1, ACSM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6503546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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